ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.389G>A (p.Gly130Glu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322728 SCV004027819 uncertain significance Anophthalmia/microphthalmia-esophageal atresia syndrome 2023-06-29 criteria provided, single submitter clinical testing Criteria applied: PM5,PM2_SUP,PP2,PP3

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.